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Table 1 Age at diagnosis for seven congenital endocrine diseases, by age category

From: Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

 

Number of patients (Female%)

Missing data

N (%)

Median age at diagnosis (years)

Patients diagnosed

< 5 years old

Patients diagnosed

[5–11) years old

Patients diagnosed [11–18)

years old

Patients diagnosed

≥18 years old

Idiopathic isolated growth hormone deficiency

1593

(38.5%)

97

(6.1%)

8.42

(4.42-11.33)

418

(26.2%)

637

(40%)

435

(27.3%)

6

(0.4%)

Ectopic posterior pituitary syndrome

364

(38.7%)

0

3.42

(0.50-7.50)

230

(63.2%)

90

(24.7%)

41

(11.3%)

3

(0.8%)

Isolated congenital hypogonadotropic hypogonadism

761

(39.3%)

48

(6.3%)

17.42

(14.00-25.00)

105

(13.8%)

21

(2.8%)

237

(31.1%)

350

(46%)

Turner syndrome*

1478

(100%)

38

(2.6%)

9.00**

(0.67-13.69)

478

(32.3%)

397

(26.9%)

393

(26.6%)

172

(11.6%)

McCune-Albright Syndrome

38

(94.7%)

1

(2.6%)

4.67

(2.50-6.58)

23

(60.5%)

12

(31.6%)

2

(5.3%)

ND

Complete androgen insensitivity syndrome

77

(100%)

7

(9.1%)

9.25

(0.21-16.00)

33

(42.8%)

3

(3.9%)

17

(22.1%)

17

(22.1%)

Gonadal dysgenesis 46,XY/45,X

68

(27.9%)

3

(4.4%)

0.00

(0.00-9.25)

45

(66.2%)

6

(8.8%)

8

(11.8%)

6

(8.8%)

  1. Values are expressed as median ± quartiles, or number (%)
  2. *Antenatal diagnosis in Turner syndrome: n = 160 (10.8%)
  3. **Median age of patients with Turner syndrome diagnosed postnatally: 10.83 (7.00–15.00) years